P4HA2
Homo sapiens
Gene Name: Prolyl 4-hydroxylase, alpha polypeptide II
Aliases:
Chromosome No: 5
Chromosome Band: 5q31.1
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 5
Chromosome Band: 5q31.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 14
Associated CNVs: 6
Evidence score: 3
ASD Reports: 5
Recent Reports: 0
Annotated variants: 14
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Three de novo missense variants in the P4HA2 gene have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=1.21 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis that catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
